Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP561449.RAmBE4ugrGKlV3BuX_B4gFNg9BA2f3SCUsFUsDXy5v5kw130_assertion> ?p ?o ?g. }
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- NP561449.RAmBE4ugrGKlV3BuX_B4gFNg9BA2f3SCUsFUsDXy5v5kw130_assertion type Assertion NP561449.RAmBE4ugrGKlV3BuX_B4gFNg9BA2f3SCUsFUsDXy5v5kw130_head.
- NP561449.RAmBE4ugrGKlV3BuX_B4gFNg9BA2f3SCUsFUsDXy5v5kw130_assertion description "[The patient was found to carry a de novo PTPN11 mutation p.T2I as well as the maternally inherited NF1 mutation c.4661+1G>C. Her otherwise healthy mother and brother, who also had the NF1 mutation, showed few caf�-au-lait spots as the only sign of neurofibromatosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP561449.RAmBE4ugrGKlV3BuX_B4gFNg9BA2f3SCUsFUsDXy5v5kw130_provenance.
- NP561449.RAmBE4ugrGKlV3BuX_B4gFNg9BA2f3SCUsFUsDXy5v5kw130_assertion evidence source_evidence_literature NP561449.RAmBE4ugrGKlV3BuX_B4gFNg9BA2f3SCUsFUsDXy5v5kw130_provenance.
- NP561449.RAmBE4ugrGKlV3BuX_B4gFNg9BA2f3SCUsFUsDXy5v5kw130_assertion SIO_000772 19449407 NP561449.RAmBE4ugrGKlV3BuX_B4gFNg9BA2f3SCUsFUsDXy5v5kw130_provenance.
- NP561449.RAmBE4ugrGKlV3BuX_B4gFNg9BA2f3SCUsFUsDXy5v5kw130_assertion wasDerivedFrom befree-20140225 NP561449.RAmBE4ugrGKlV3BuX_B4gFNg9BA2f3SCUsFUsDXy5v5kw130_provenance.
- NP561449.RAmBE4ugrGKlV3BuX_B4gFNg9BA2f3SCUsFUsDXy5v5kw130_assertion wasGeneratedBy ECO_0000203 NP561449.RAmBE4ugrGKlV3BuX_B4gFNg9BA2f3SCUsFUsDXy5v5kw130_provenance.